Incidental Mutation 'R5325:Grhl3'
| ID |
475446 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grhl3
|
| Ensembl Gene |
ENSMUSG00000037188 |
| Gene Name |
grainyhead like transcription factor 3 |
| Synonyms |
ct, Som, Get1 |
| MMRRC Submission |
042908-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.952)
|
| Stock # |
R5325 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
135269199-135300941 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 135286415 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 89
(K89*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101481
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105855]
|
| AlphaFold |
Q5FWH3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000105855
AA Change: K89*
|
| SMART Domains |
Protein: ENSMUSP00000101481
Gene: ENSMUSG00000037188
AA Change: K89*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CP2
|
215 |
421 |
2.5e-81 |
PFAM |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
98% (55/56) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the grainyhead family of transcription factors. The encoded protein may function as a transcription factor during development, and has been shown to stimulate migration of endothelial cells. Multiple transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for the variably penetrant curly-tail mutation (ct) show symptoms of cranial or spinal neural tube defects such as curly tails and/or spina bifida; homozygotes with more severe phenotypes display exencephaly and die in utero. Homozygous knockout mice show severe neural tube defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace3 |
T |
A |
11: 105,896,079 (GRCm39) |
M675K |
probably benign |
Het |
| Ccdc186 |
A |
T |
19: 56,801,613 (GRCm39) |
I168N |
probably damaging |
Het |
| Ccnb1 |
C |
G |
13: 100,918,283 (GRCm39) |
Q121H |
possibly damaging |
Het |
| Cep83 |
A |
G |
10: 94,573,768 (GRCm39) |
E219G |
probably damaging |
Het |
| Ctsj |
T |
C |
13: 61,151,839 (GRCm39) |
T73A |
possibly damaging |
Het |
| Ddr2 |
T |
A |
1: 169,829,406 (GRCm39) |
T283S |
probably benign |
Het |
| Ehbp1 |
T |
A |
11: 22,045,370 (GRCm39) |
D768V |
possibly damaging |
Het |
| Evpl |
T |
C |
11: 116,112,191 (GRCm39) |
D1833G |
probably damaging |
Het |
| Exoc1 |
A |
G |
5: 76,685,549 (GRCm39) |
N87S |
probably benign |
Het |
| Fam98b |
A |
C |
2: 117,101,132 (GRCm39) |
I315L |
possibly damaging |
Het |
| Fancg |
A |
G |
4: 43,006,564 (GRCm39) |
V330A |
probably damaging |
Het |
| Fbxo30 |
G |
A |
10: 11,166,846 (GRCm39) |
V523I |
possibly damaging |
Het |
| Fbxw27 |
A |
G |
9: 109,599,161 (GRCm39) |
C419R |
probably damaging |
Het |
| Flt3 |
C |
A |
5: 147,312,459 (GRCm39) |
V161L |
probably benign |
Het |
| Fndc7 |
G |
A |
3: 108,790,765 (GRCm39) |
T87I |
probably damaging |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Gm6457 |
A |
T |
18: 14,703,498 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr63 |
T |
C |
4: 25,007,294 (GRCm39) |
V6A |
probably benign |
Het |
| H2-M10.2 |
C |
A |
17: 36,596,471 (GRCm39) |
V125L |
probably benign |
Het |
| Hrh4 |
C |
T |
18: 13,155,054 (GRCm39) |
Q198* |
probably null |
Het |
| Lrch4 |
A |
G |
5: 137,636,168 (GRCm39) |
E373G |
probably damaging |
Het |
| Mroh9 |
C |
G |
1: 162,888,329 (GRCm39) |
G249R |
probably damaging |
Het |
| Noa1 |
A |
C |
5: 77,452,042 (GRCm39) |
D547E |
probably damaging |
Het |
| Nr2e1 |
G |
A |
10: 42,448,780 (GRCm39) |
R153W |
probably damaging |
Het |
| Nudt9 |
A |
C |
5: 104,198,487 (GRCm39) |
M1L |
possibly damaging |
Het |
| Odf2 |
T |
A |
2: 29,802,583 (GRCm39) |
D282E |
probably benign |
Het |
| Olfr908 |
A |
T |
9: 38,427,454 (GRCm39) |
N42I |
probably damaging |
Het |
| Or13a25 |
C |
A |
7: 140,247,705 (GRCm39) |
H168Q |
probably benign |
Het |
| Or6ae1 |
T |
A |
7: 139,742,026 (GRCm39) |
Y279F |
probably damaging |
Het |
| Osbpl5 |
C |
G |
7: 143,245,665 (GRCm39) |
A816P |
probably damaging |
Het |
| Pan2 |
T |
C |
10: 128,153,503 (GRCm39) |
I924T |
possibly damaging |
Het |
| Ppat |
A |
G |
5: 77,076,269 (GRCm39) |
|
probably benign |
Het |
| Rad50 |
T |
G |
11: 53,583,690 (GRCm39) |
I364L |
probably benign |
Het |
| Rnf7l |
A |
G |
10: 63,257,458 (GRCm39) |
S21P |
probably benign |
Het |
| Robo2 |
A |
G |
16: 73,770,673 (GRCm39) |
I484T |
possibly damaging |
Het |
| Ryr2 |
A |
T |
13: 11,705,249 (GRCm39) |
M2839K |
probably damaging |
Het |
| Sin3b |
A |
G |
8: 73,477,154 (GRCm39) |
D807G |
probably damaging |
Het |
| Sirpb1a |
G |
A |
3: 15,476,503 (GRCm39) |
T98I |
possibly damaging |
Het |
| Smim17 |
G |
A |
7: 6,432,321 (GRCm39) |
V88M |
probably damaging |
Het |
| Spib |
T |
C |
7: 44,177,505 (GRCm39) |
T229A |
probably damaging |
Het |
| St14 |
A |
T |
9: 31,008,274 (GRCm39) |
|
probably null |
Het |
| Syne4 |
A |
T |
7: 30,018,401 (GRCm39) |
Y381F |
probably damaging |
Het |
| Sytl1 |
T |
C |
4: 132,988,382 (GRCm39) |
|
probably benign |
Het |
| Tnpo3 |
A |
C |
6: 29,602,012 (GRCm39) |
|
probably benign |
Het |
| Trim12a |
T |
A |
7: 103,953,413 (GRCm39) |
I233F |
probably damaging |
Het |
| Tspan1 |
T |
A |
4: 116,021,536 (GRCm39) |
N82Y |
probably damaging |
Het |
| Vmn1r60 |
T |
A |
7: 5,547,201 (GRCm39) |
M300L |
probably benign |
Het |
| Wdr17 |
G |
A |
8: 55,112,716 (GRCm39) |
A788V |
possibly damaging |
Het |
| Wwtr1 |
A |
T |
3: 57,482,658 (GRCm39) |
V63E |
probably benign |
Het |
| Ylpm1 |
A |
G |
12: 85,060,735 (GRCm39) |
|
probably benign |
Het |
| Zfp956 |
T |
C |
6: 47,928,012 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Grhl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02638:Grhl3
|
APN |
4 |
135,284,176 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02868:Grhl3
|
APN |
4 |
135,281,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Bite-size
|
UTSW |
4 |
135,284,744 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
hammerkop
|
UTSW |
4 |
135,273,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
hoopoe
|
UTSW |
4 |
135,286,457 (GRCm39) |
missense |
probably benign |
0.00 |
|
Tropicbird
|
UTSW |
4 |
135,286,415 (GRCm39) |
nonsense |
probably null |
|
|
R0121:Grhl3
|
UTSW |
4 |
135,279,860 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0180:Grhl3
|
UTSW |
4 |
135,281,841 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0627:Grhl3
|
UTSW |
4 |
135,279,992 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0727:Grhl3
|
UTSW |
4 |
135,273,565 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1248:Grhl3
|
UTSW |
4 |
135,288,617 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1664:Grhl3
|
UTSW |
4 |
135,279,861 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2910:Grhl3
|
UTSW |
4 |
135,286,457 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2911:Grhl3
|
UTSW |
4 |
135,286,457 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3773:Grhl3
|
UTSW |
4 |
135,283,158 (GRCm39) |
nonsense |
probably null |
|
|
R4033:Grhl3
|
UTSW |
4 |
135,300,735 (GRCm39) |
start codon destroyed |
probably benign |
|
|
R4521:Grhl3
|
UTSW |
4 |
135,273,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4576:Grhl3
|
UTSW |
4 |
135,288,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4650:Grhl3
|
UTSW |
4 |
135,276,547 (GRCm39) |
splice site |
probably null |
|
|
R4697:Grhl3
|
UTSW |
4 |
135,275,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4919:Grhl3
|
UTSW |
4 |
135,286,415 (GRCm39) |
nonsense |
probably null |
|
|
R4920:Grhl3
|
UTSW |
4 |
135,286,415 (GRCm39) |
nonsense |
probably null |
|
|
R4961:Grhl3
|
UTSW |
4 |
135,279,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5100:Grhl3
|
UTSW |
4 |
135,269,986 (GRCm39) |
missense |
probably benign |
|
|
R5180:Grhl3
|
UTSW |
4 |
135,286,415 (GRCm39) |
nonsense |
probably null |
|
|
R5181:Grhl3
|
UTSW |
4 |
135,286,415 (GRCm39) |
nonsense |
probably null |
|
|
R6429:Grhl3
|
UTSW |
4 |
135,284,507 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6459:Grhl3
|
UTSW |
4 |
135,284,744 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7047:Grhl3
|
UTSW |
4 |
135,276,551 (GRCm39) |
splice site |
probably null |
|
|
R7073:Grhl3
|
UTSW |
4 |
135,300,723 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7345:Grhl3
|
UTSW |
4 |
135,273,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7797:Grhl3
|
UTSW |
4 |
135,286,416 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7829:Grhl3
|
UTSW |
4 |
135,288,532 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8023:Grhl3
|
UTSW |
4 |
135,277,640 (GRCm39) |
missense |
probably benign |
|
|
R8472:Grhl3
|
UTSW |
4 |
135,284,176 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8499:Grhl3
|
UTSW |
4 |
135,276,549 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8766:Grhl3
|
UTSW |
4 |
135,300,724 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8836:Grhl3
|
UTSW |
4 |
135,288,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9466:Grhl3
|
UTSW |
4 |
135,283,412 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1177:Grhl3
|
UTSW |
4 |
135,279,997 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCTGTTCTGAAACCTCC -3'
(R):5'- TTTCTCCCAAGCGTTCCAGG -3'
Sequencing Primer
(F):5'- GAAACCTCCCCATTGCACCTATTG -3'
(R):5'- AAGCGTTCCAGGGCCTG -3'
|
| Posted On |
2017-04-24 |
Incidental Mutation